Term Name: | congenital disorder of glycosylation Ic |
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Synonyms: | congenital disorder of glycosylation 1c |
Definition: | A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31. |
Ontology: | Human Disease [DOID:0080555] ( DOID:0080555 ) |